Elena Sharp had surgery at 5 months of age to correct a heart defect that affected her family.
“The doctor said, ‘There’s something wrong with the baby’s heart; we don’t know if she will survive,'” Sharp said. “I was devastated.”
Six months pregnant, Tara and her husband, Ben, were eagerly awaiting their second child. Now, instead of telling their older daughter to expect a sister, they wondered if the baby would live.
A genetic counselor soon asked about family history of heart problems. One aunt, Sharp learned from her mother, had a mild version of tetralogy of Fallot, the defect detected in a severe form on her own baby’s sonogram. But Sharp’s mom, Heather, revealed more: More than 50 babies on her family tree, including one of Heather’s own siblings, had died in infancy because of severe versions of the same heart defect. It was the first time Sharp had heard this element of her family’s past.
But Sharp’s pediatric cardiologist in Santa Rosa, Calif., offered hope. “She told us the best surgeon in the world for tetralogy of Fallot is right here at Packard Children’s,” she said.
That cardiovascular surgeon, Frank Hanley, MD, who directs the hospital’s Children’s Heart Center, invented a surgical repair called unifocalization that has helped hundreds of children survive with complex tetralogy of Fallot. The defect includes structural abnormalities in and around the heart, including a missing or malformed pulmonary artery to carry blood from the heart to the lungs. To compensate, the body develops “collateral” arteries that travel from the aorta to the lungs. This abnormal anatomy increases lung blood pressure and causes lung damage. The defect also prevents the body from receiving fully oxygenated blood. Without surgical repair, most patients die in infancy or childhood.
Hanley advised Sharp to deliver the baby, who would be named Elena, at Packard Children’s.
“We wouldn’t know the details of Elena’s collateral blood vessels until she was born and could receive cardiac catheterization,” said Hanley, who is also a professor of pediatric cardiac surgery at the School of Medicine. “Most infants with this condition do not require urgent newborn surgery, but about 10 percent do. So we wanted to assess Elena’s condition quickly.”
Sharp was referred to the Center for Fetal and Maternal Health at Packard Children’s, where patient care coordinator Meg Homeyer helped Sharp navigate her remaining prenatal care, including several diagnostic and consultative appointments with specialists.
“We try to do everything we can to make the process less difficult,” Homeyer said, noting that some of Sharp’s monitoring was performed in Santa Rosa to spare her extra trips to Palo Alto. “We want the patient’s experience to be as simple, understandable and empathetic as possible.”
Sharp was scheduled to have a caesarean section shortly before her due date. But she went into labor three weeks early. After an emergency helicopter flight during labor, Sharp was glad to come through Packard Children’s doors.
“As soon as we got to the hospital, I felt relieved,” she said. “I thought, ‘We’re in the best hands possible; this is out of my control now.'”
Elena’s birth by C-section went smoothly, but her early days were not easy. “It was a week before we knew she could breathe on her own, before the doctors could perform the catheterization and realized they could postpone surgery,” Sharp said. After 12 days in the neonatal intensive care unit, the new parents were excited to take Elena home.
For tetralogy of Fallot patients like Elena who do not need surgery as newborns, it’s better to wait a few months to fix their hearts, Hanley explained. “Since the unifocalization surgery is so extensive from a technical standpoint and in terms of trauma inside the chest, there is an advantage to waiting,” he said. But waiting carries the risk of overexposing the lungs to high blood pressure. To strike a balance, most unifocalization surgeries are performed at a few months of age. Elena returned to Packard Children’s for surgery when she was nearly 6 months old.
In the operating room, Hanley located all the collateral arteries that were carrying blood to Elena’s lungs and used them to construct a new pulmonary artery. It’s like rebuilding the trunk of an oak tree from branches scattered around a field, he said. He tested the blood flow through the new artery to make sure it was adequate to supply Elena’s lungs. He replaced an abnormal heart valve and closed a defect between the right and left sides of Elena’s heart.
Few surgeons in the world attempt the marathon procedure, which took about 10 hours. For Hanley, it was almost routine. “Elena’s case wasn’t the simplest unifocalization I’ve performed, but not the most complex either,” Hanley said.
But for Elena’s parents, it was the most important operation Hanley had ever done. After the surgery, Sharp said, “Dr. Hanley appeared out of thin air, very calm, and said everything went as expected. My husband and I just held onto each other.” The heartfelt “thank you” they offered him didn’t seem like enough, she added. “How do you thank the person who saved your child’s life?”
A few hours later, sitting at Elena’s bedside in the cardiovascular intensive care unit, Sharp was talking with cardiology fellow Loren Sacks, MD, when she had a strange realization.
“Tara told me it had just hit her that Elena would be the first member of their family who was expected to survive this disease,” Sacks said. “I sort of choked up. It was an amazing moment to be part of giving this gift to the family, especially in light of how afflicted they had been, going back through the generations.”
Elena, now 9 months old, is not yet aware of her significant place in family history. Healthy and content, she’s focused on crawling, giggling, trying to stand and munching on everything she can bite with two teeth. Meanwhile, Packard Children’s genetic counseling team is still investigating the genetic basis of her heart defect. If they’re able to identify the genes involved, Elena’s case might shed light on the origin of tetralogy of Fallot in other families, too.
“Had Elena been born even 15 years ago, she probably wouldn’t have survived,” Sharp said. “Packard Children’s has changed the family forever. Looking at her, you would never know that anything had been wrong.”